Works matching DE "GENETIC testing"

Results: 5000

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03772-7

By:

Domaradzki, Jan;
Walkowiak, Dariusz

Publication type:

Article

The underlying molecular mechanisms and biomarkers of Hip fracture combined with deep vein thrombosis based on self sequencing bioinformatics analysis.

Published in:

Journal of Orthopaedic Surgery & Research, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13018-025-05668-5

By:

Shi, Guanghua;
Shi, Xiaocui;
Zhang, Meng;
Cheng, Rui;
Hu, Mengqing;
Zhao, Yu;
Li, Shimei;
Li, Xiuxiu;
Ma, Haiyun;
Li, Pengcui

Publication type:

Article

Managing Late-Onset ERF-Related Craniosynostosis With Cranial Vault Distraction Osteogenesis.

Published in:

FACE (2732-5016), 2025, v. 6, n. 2, p. 259, doi. 10.1177/27325016241313390

By:

Ferry, Andrew M.;
Marx-Albuquerque, Leandro;
Burch, Samantha J.;
Meza-Rochin, Ana;
Balumuka, Darius;
Howell, Lori K.;
Selden, Nathan R.;
Wolfswinkel, Erik M.

Publication type:

Article

An update on the ESC Council on Cardiovascular Genomics: out from the niche into the open Free.

Published in:

European Heart Journal, 2025, v. 46, n. 19, p. 1784, doi. 10.1093/eurheartj/ehaf068

By:

Kääb, Stefan;
Bondue, Antoine

Publication type:

Article

A Novel 5‐Probe FISH Strategy is Better Equipped for a More Comprehensive and Cost‐Effective Risk Stratification of BCP‐ALL.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 3, p. 437, doi. 10.1111/ijlh.14441

By:

Singh, Manish K.;
Nair, Arun S.;
Pandey, Akshita;
Sharma, Vineet;
Rahman, Khaliqur;
Gupta, Ruchi;
Chandra, Dinesh;
Yadav, Sanjeev;
Kashyap, Rajesh;
Arun, S. R.;
Parihar, Mayur

Publication type:

Article

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6

By:

Saier, Christina;
Sansen, Stefaan;
Berghout, Joanne;
Freyler, Kathrin;
Einhorn, Moshe;
Einhorn, Yaron;
Matalonga, Leslie;
Beltran, Sergi;
Novelli, Antonio;
Selvatici, Rita;
Fortunato, Fernanda;
Montanari, Silvia;
Martinez-Fresno, Maria;
Gumus, Gulcin;
Agolini, Emanuele;
Garnier, Nicolas;
Ferlini, Alessandra;
Bertini, Enrico;
Kirschner, Janbernd

Publication type:

Article

Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 4, p. 1, doi. 10.1093/bioinformatics/btaf153

By:

Hazelett, Dennis J

Publication type:

Article

Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0320354

By:

Tashfeen, Sunila;
Ujjan, Ikram Din;
Shaikh, Hina;
Sadiq, Muhammad Arif;
Khidri, Feriha Fatima;
Rajput, Ali Raza;
Waryah, Ali Muhammad

Publication type:

Article

A novel lncRNA YIL163C enhances genomic stability and antifungal resistance via the DNA damage response in Saccharomyces cerevisiae.

Published in:

Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1571797

By:

Wang, Xueting;
Li, Xuemei;
Li, Duoyun;
Zhang, Yiying;
Bai, Bing;
Chai, Bao;
Wen, Zewen

Publication type:

Article

Pallister-Killian Syndrome: A Case Report of Neonatal Pathogenic Tetrasomy 12p Associated with Congenital QT Prolongation and Multisystem Involvement.

Published in:

Neonatology Today, 2025, v. 20, n. 4, p. 197

By:

Hua Wang

Publication type:

Article

Exploring the generational ordering of kinship through decisions about DNA testing and gamete donor conception: What's the right age to know your donor relatives?

Published in:

Sociological Review, 2025, v. 73, n. 3, p. 526, doi. 10.1177/00380261241309488

By:

Gilman, Leah;
Nordqvist, Petra;
Hudson, Nicky;
Frith, Lucy

Publication type:

Article

Transient neonatal zinc deficiency in a 3-month-old infant: A case report.

Published in:

2025

By:

Horth, Damy;
Auger, Isabelle

Publication type:

Case Study

Rare and low-frequency variants in families with otitis media.

Published in:

Journal of Molecular Medicine, 2025, v. 103, n. 5, p. 559, doi. 10.1007/s00109-025-02537-w

By:

Santos-Cortez, Regie Lyn P.;
Elling, Christina L.;
Gomez, Helen Z.;
Einarsdottir, Elisabet;
Kere, Juha;
Mattila, Petri S.;
Hafrén, Lena;
Ryan, Allen F.

Publication type:

Article

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00476-6

By:

Ridd, Sarah;
Peck, Larissa;
Bankar, Aniket;
Charames, George S.;
Lerner-Ellis, Jordan;
Mahajan, Radhika;
Sabatini, Peter J. B.;
Wong, Andrew;
Malcolmson, Janet;
Kim, Raymond H.

Publication type:

Article

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

Published in:

BMC Nephrology, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12882-025-04173-5

By:

Paranthaman, Sarranya;
Srivastava, Priyanka;
Kumari, Anu;
Bhardwaj, Chitra;
Bawa, Pratibha;
Kaur, Anupriya;
Panigrahi, Inusha;
Dawman, Lesa;
Tiewsoh, Karalanglin

Publication type:

Article

Prenatal Diagnosis of ACTG2-Related Megacystis–Microcolon–Intestinal Hypoperistalsis Syndrome—Case Report and Systematic Review.

Published in:

2025

By:

Ravi, Neha;
Kumar, Sailesh;
Ramachandran, Aparna

Publication type:

Case Study

Updates in Diagnostic Tools for ILD.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 9, p. 2924, doi. 10.3390/jcm14092924

By:

Tharwani, Arsal;
Ribeiro Neto, Manuel L.

Publication type:

Article

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 4, p. 715, doi. 10.1177/10556656241234742

By:

Berber, Uğur;
Gül Şıraz, Ülkü;
Yakubi, Mustafa;
Gök, Ebru;
Kara, Leyla;
Kiraz, Aslihan;
Dündar, Munis;
Hatipoglu, Nihal

Publication type:

Article

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Published in:

Cancers, 2025, v. 17, n. 9, p. 1419, doi. 10.3390/cancers17091419

By:

Marabelli, Monica;
Calvello, Mariarosaria;
Marino, Elena;
Morocutti, Chiara;
Gandini, Sara;
Dal Molin, Matteo;
Zanzottera, Cristina;
Mannucci, Sara;
Fava, Francesca;
Feroce, Irene;
Lazzeroni, Matteo;
Guerrieri-Gonzaga, Aliana;
Bertolini, Francesco;
Bonanni, Bernardo

Publication type:

Article

Advances and challenges in the application of donor-derived cell-free DNA for diagnosis and treatment in liver transplantation: a narrative review.

Published in:

BMC Surgery, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12893-025-02911-y

By:

Zhong, Yiwu;
Hu, Xu;
Li, Xiaoping;
Qiao, Yinbiao;
Li, Haoyu;
Zhou, Shijie;
Zheng, Shusen;
Li, Jianhui

Publication type:

Article

Anticipated Responses to Genetic Testing for Alzheimer's Disease Susceptibility among Latinos in Northern Manhattan.

Published in:

Journal of Community Health, 2025, v. 50, n. 3, p. 472, doi. 10.1007/s10900-024-01434-6

By:

Meng, Alicia;
Cabán, María;
Tran, Evelyn;
Wetmore, John B.;
Ottman, Ruth;
Siegel, Karolynn

Publication type:

Article

Primary Malignant Melanoma of the Uterine Cervix with S100 (Protein Marker Seen in Women with Melanoma) Negative Status and Novel ATM Gene Mutation: Case Report and Literature Review.

Published in:

International Journal of Women's Health, 2025, v. 17, p. 983, doi. 10.2147/IJWH.S499393

By:

Wang, Liang

Publication type:

Article

Pathogen Screening and Genetic Analysis of Brazilian Black Tiger Shrimp (Penaeus monodon) Populations for Enhancing Aquaculture Stocks.

Published in:

Aquaculture Research, 2025, p. 1, doi. 10.1155/are/9086659

By:

Andrade, Thales Passos de;
Gomes, Amanda Rafaela Cunha;
Junior, Francisco Rodrigues Norberto;
Kijas, James;
Sellars, Melony;
Brawner, Jeremy

Publication type:

Article

Emerging Trends in Malignant Hyperthermia; Uncommon Yet Increasingly Seen in the Indian Subcontinent.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2025, v. 18, n. 1, p. 142, doi. 10.4103/mjdrdypu.mjdrdypu_940_23

By:

Khatavkar, Sonal S.;
Vazhakalayil, Subha T. Jose;
Veer, Sandeep D.;
Babu, Jekha M.

Publication type:

Article

Genetic insights into BRCA1/2 associated breast cancer in Türkiye: focus on early-onset and aggressive subtypes.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02192-0

By:

Celik Demirbas, Betul;
Kilic Erciyas, Seda;
Sukruoglu Erdogan, Ozge;
Pasin, Ozge;
Yalniz Kayim, Zubeyde;
Özgel, Merve Çiğdem;
Tuncer, Seref Bugra

Publication type:

Article

GWAS significance thresholds in large cohorts of European ancestry.

Published in:

Genetics, 2025, v. 230, n. 1, p. 1, doi. 10.1093/genetics/iyaf056

By:

Cheruiyot, Evans K;
Yang, Tingyan;
McRae, Allan F

Publication type:

Article

Prenatal diagnosis and management of fetal anemia caused by hemoglobin H‐Adana: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 5, p. 1, doi. 10.1111/jog.16310

By:

Sirilert, Sirinart;
Srisupundit, Kasemsri;
Charoenkwan, Pimlak;
Phusua, Arunee;
Tongsong, Theera

Publication type:

Article

Successful management with regular factor IX replacement during pregnancy in a hemophilia B carrier: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 5, p. 1, doi. 10.1111/jog.16303

By:

Fujino, Saho;
Kaneko, Kayoko;
Higuchi, Akitsu;
Mitsui, Mari;
Wada, Seiji;
Ishiguro, Akira

Publication type:

Article

Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family.

Published in:

DNA & Cell Biology, 2025, v. 44, n. 5, p. 238, doi. 10.1089/dna.2024.0280

By:

Zubo, Wu;
Liu, Jie;
Liu, Yi;
Wang, Xiaoli;
Shu, Defeng

Publication type:

Article

SMARCA4-Deficient Undifferentiated Gallbladder Cancer: A Case Report and Review of the Literature.

Published in:

International Journal of Surgical Pathology, 2025, v. 33, n. 4, p. 1057, doi. 10.1177/10668969241297259

By:

Ma, Xiaoting;
Long, Xinyuan;
Song, Fang;
Lv, Jinghuan

Publication type:

Article

二代测序在新生儿疾病早期筛查中的临床应用.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 4, p. 432, doi. 10.7499/j.issn.1008-8830.2409107

By:

蒋丽红;
吴本清;
赵正言

Publication type:

Article

First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05709-2

By:

Shaheen, Manal M.;
Mujahed, Ramzi H.;
Abusabha, Saja E.;
Alwahsh, Iman M.;
Abufara, Areen A.;
Junaidi, Leen J.;
Alkablan, Haya A.

Publication type:

Article

Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.

Published in:

Molecular & Cellular Pediatrics, 2025, v. 12, n. 1, p. 1, doi. 10.1186/s40348-025-00193-1

By:

Dwivedi, Aradhana;
Chauhan, Lakshita;
Kumar, Pramod;
Nanda, Aashna;
Jayakrishnan, V. Y.

Publication type:

Article

15q24 Duplication: A Case Report of Neurodevelopmental Delay.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 6, p. 764, doi. 10.1177/00099228241296235

By:

Cámara-Domínguez, Agustín;
Stuart-Aguiar, Alexandra Margaret;
Fuentes-Canto, Nicte-Há Asunción;
Cervera-Rosado, Andrea;
Azotla-Vilchis, Cuauhtli Nacxitl;
Márquez-Quiroz, Luz del Carmen;
Vargas-Méndez, Rodrigo;
Contreras-Capetillo, Silvina Noemí

Publication type:

Article

RNA transcripts serve as a template for double-strand break repair in human cells.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59510-x

By:

Jalan, Manisha;
Brambati, Alessandra;
Shah, Hina;
McDermott, Niamh;
Patel, Juber;
Zhu, Yingjie;
Doymaz, Ahmet;
Wu, Julius;
Anderson, Kyrie S.;
Gazzo, Andrea;
Pareja, Fresia;
Yamaguchi, Takafumi N.;
Vougiouklakis, Theodore;
Ahmed-Seghir, Sana;
Steinberg, Philippa;
Neiman-Golden, Anna;
Azeroglu, Benura;
Gomez-Aguilar, Joan;
da Silva, Edaise M.;
Hussain, Suleman

Publication type:

Article

A rare case of Fabry disease cardiomyopathy and severe mitral stenosis.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 4, p. 515, doi. 10.33963/v.phj.104572

By:

Suchodolski, Alexander;
Streb, Witold;
Sędkowska, Agnieszka;
Szulik, Mariola;
Kalarus, Zbigniew

Publication type:

Article

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Published in:

Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01482-0

By:

Wegert, Jenny;
Appenzeller, Silke;
Treger, Taryn D.;
Streitenberger, Heike;
Ziegler, Barbara;
Bausenwein, Sabrina;
Vokuhl, Christian;
Parks, Conor;
Jüttner, Eva;
Gramlich, Susanne;
Ernestus, Karen;
Warman, Steven W.;
Fuchs, Jörg;
Hubertus, Jochen;
von Schweinitz, Dietrich;
Fröhlich, Birgit;
Jorch, Norbert;
Knöfler, Ralf;
Friedrich, Carsten;
Corbacioglu, Selim

Publication type:

Article

Knowledge, attitude, and practice toward genetic testing in breast cancer patients in China.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0322526

By:

Ye, Xin;
Xu, Ting;
Cao, Jun;
Li, Gang;
Zhuang, Ming;
Hu, Guangfu;
Chen, Hongliang;
Wang, Min;
Wang, Jie

Publication type:

Article

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes.

Published in:

International Journal of Genomics, 2025, v. 2025, p. 1, doi. 10.1155/ijog/6963280

By:

Chen, Jian;
Sun, Hairui;
Han, Ling;
Gu, Xiaoyan;
Hao, Xiaoyan;
Fu, Yuwei;
Weng, Zongjie;
Xiong, Yi;
Liu, Baomin;
Zhang, Hongjia;
He, Yihua;
Li, Hong;
Salem, Khaled F. M.

Publication type:

Article

OsSPL9 promotes Cu uptake and translocation in rice grown in high‐Fe red soil.

Published in:

New Phytologist, 2025, v. 246, n. 5, p. 2207, doi. 10.1111/nph.70074

By:

Bai, Xue;
Wu, ShengYang;
Bai, Ai‐Ning;
Zhang, Yu‐Meng;
Zhang, Yan;
Yao, Xue‐Feng;
Yang, Tao;
Chen, Meng‐Meng;
Liu, Jin‐Lei;
Li, Lei;
Zhou, Yao;
Liu, Chun‐Ming

Publication type:

Article

2025 Canadian Urological Association-Canadian Uro-oncology Group Guideline: Metastatic castration-naive and castrationsensitive prostate cancer (Update).

Published in:

Canadian Urological Association Journal, 2025, v. 19, n. 5, p. 142, doi. 10.5489/cuaj.9240

By:

So, Alan I.;
Kim Chi;
Danielson, Brita;
Fleshner, Neil;
Kinnaird, Adam;
Niazi, Tamim;
Pouliot, Frédéric;
Rendon, Ricardo A.;
Shayegan, Bobby;
Sridhar, Srikala S.;
Vigneault, Eric;
Breau, Rodney H.;
Saad, Fred

Publication type:

Article

Summary of changes in the 2025 Canadian Urological Association-Canadian Urologic Oncology Group Guideline on metastatic castration-naive and castration-sensitive prostate cancer.

Published in:

Canadian Urological Association Journal, 2025, v. 19, n. 5, p. 140, doi. 10.5489/cuaj.9228

By:

So, Alan I.;
Saad, Fred

Publication type:

Article

Peutz–Jeghers Syndrome in a Young Ethiopian Male: A Case Report.

Published in:

2025

By:

Shewaye, Abate Bane;
Berhane, Kaleb Assefa;
Nakayama, Yoshifumi

Publication type:

Case Study

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant.

Published in:

2025

By:

Donis, Russell;
Al Badi, Maryam;
Alhashmi, Nadia;
Hattersley, Andrew T;
Flanagan, Sarah E;
De Franco, Elisa

Publication type:

Case Study

Limiting surveillance in individuals with the Palestinian TP53 p. R181C founder variant—is it too soon to draw conclusions?

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 819, doi. 10.1093/jnci/djaf009

By:

Omran, Meis;
Malkin, David

Publication type:

Article

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 1069, doi. 10.1093/jnci/djae334

By:

Lolas-Hamameh, Suhair;
Lieberman, Sari;
Sarahneh, Alaa;
Walsh, Tom;
Lee, Ming K;
Gulsuner, Suleyman;
Rabie, Grace;
Beeri, Rachel;
Aburayyan, Amal;
Mandell, Jessica B;
Fridman, Hila;
Lazer-Derbeko, Galit;
Klopstock, Tehila;
Freireich, Orit;
Lahad, Amnon;
King, Mary-Claire;
Levy-Lahad, Ephrat;
Kanaan, Moien N

Publication type:

Article

Malignant hyperthermia during orthognathic surgery: a case report.

Published in:

2024

By:

Li Yue;
Lin Jie;
Luo Wei;
Luo Kai;
Luo Lin

Publication type:

Case Study

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Published in:

NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00925-6

By:

Saoud, Carla;
Dermawan, Josephine K.;
Arora, Kanika;
Tap, William D.;
Reed, Damon;
Slotkin, Emily K.;
Wexler, Leonard H.;
Murciano-Goroff, Yonina R.;
Latham, Alicia;
Mandelker, Diana L.;
Antonescu, Cristina R.

Publication type:

Article

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03732-1

By:

Al Khudari, Rawan;
Baqla, Sameer;
Al Asmar, Diana

Publication type:

Article